Barbara Thorand

A novel age-informative polygenic score improves predictive ability for kidney function and kidney function decline

The paper develops an age-informative polygenic score for kidney function and shows it improves prediction of eGFR and decline compared to an age-agnostic score.

The Interpretable Multimodal Machine Learning (IMML) framework reveals pathological signatures of distal sensorimotor polyneuropathy

The paper develops an interpretable multimodal machine learning framework to predict distal sensorimotor polyneuropathy using clinical and molecular data, identifying key biomarkers and improving prediction accuracy with additional molecular modalities.

Mapping pQTLs of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and novel therapeutic targets

The paper identifies pQTLs for 91 plasma proteins, finds novel associations, and uses MR to uncover causal roles in immune-mediated diseases, suggesting new therapeutic targets.

Proteogenomic integration reveals CXCL10 as a potentially downstream causal mediator for IL-6 signaling on atherosclerosis

The paper uses proteogenomic integration to identify CXCL10 as a mediator of IL-6 signaling effects on atherosclerosis, showing its association with cardiovascular disease risk and lesion characteristics.

Random glucose GWAS in 493,036 individuals provides insights into diabetes pathophysiology, complications and treatment stratification

This study performs a GWAS on random glucose measurements in 493,036 individuals, identifying 128 loci associated with glycaemic traits and providing insights into diabetes biology and treatment.

Investigation of an LPA KIV-2 nonsense mutation in 11,000 individuals: the importance of linkage disequilibrium structure in LPA genetics.

The paper investigates the LPA KIV-2 nonsense mutation R21X in 11,000 individuals, finding it associated with lower Lp(a) levels and linked to a splice mutation, highlighting the importance of LD structure in LPA genetics.

Variation in the plasma membrane monoamine transporter (PMAT, encoded in SLC29A4) and organic cation transporter 1 (OCT1, encoded in SLC22A1) and gastrointestinal intolerance to metformin in type 2 diabetes: an IMI DIRECT study

This study investigates the association between genetic variants in PMAT and OCT1 transporters and metformin gastrointestinal intolerance in type 2 diabetes patients.

Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

This study fine-maps type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps, identifying 73 variants with >80% posterior probability of association.